Discordant phenotype caused by CASK mutation in siblings with NF1
Open Access
- 26 April 2019
- journal article
- research article
- Published by Springer Nature in Human Genome Variation
- Vol. 6 (1) , 20
Abstract
With the advent of next-generation sequencing (NGS), a blended phenotype has been shown to be caused by multilocus molecular diagnosis. Here, we present siblings of neurofibromatosis type 1 (NF1) with discordant phenotypes. Further genetic investigation revealed that the younger sister had trisomy 8 mosaicism with a low ratio and a known pathogenic mutation in the CASK gene. This is the first report of a blended phenotype caused by NF1, CASK disorder, and trisomy 8 mosaicism.Keywords
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